Deafness-intellectual disability syndrome, Martin-Probst type
ORPHA:85321Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)14
HP:0000154Wide mouth
HP:0000164Abnormality of the dentition
HP:0000272Malar flattening
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000689Dental malocclusion
HP:0001537Umbilical hernia
HP:0002342Intellectual disability, moderate
HP:0006610Wide intermamillary distance
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0007477Abnormal dermatoglyphics
HP:0010864Intellectual disability, severe
Частый (30–79%)18
HP:0000028Cryptorchidism
HP:0000048Bifid scrotum
HP:0000083Renal insufficiency
HP:0000089Renal hypoplasia
HP:0000110Renal dysplasia
HP:0000179Thick lower lip vermilion
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000518Cataract
HP:0000545Myopia
HP:0000581Blepharophimosis
HP:0000821Hypothyroidism
HP:0001876Pancytopenia
HP:0004322Short stature
HP:0008736Hypoplasia of penis
HP:0100585Telangiectasia of the skin
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 3 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)